Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
Sign Up to like & getrecommendations! Published in 2018 at "Calcified Tissue International"
DOI: 10.1007/s00223-018-0414-4
Abstract: Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by brittle bones and extraskeletal manifestations. The disease phenotype varies greatly. Most commonly, OI arises from monoallelic mutations in one of the two genes encoding type I… read more here.
Keywords: novel homozygous; col1a2; caused novel; osteogenesis imperfecta ... See more keywords
Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation
Sign Up to like & getrecommendations! Published in 2019 at "Calcified Tissue International"
DOI: 10.1007/s00223-019-00599-w
Abstract: Raine syndrome is a rare hereditary disease caused by mutations in the FAM20C gene. Only 18 non-lethal cases have been reported, the majority of them being children and young adults aged up to 30. Due… read more here.
Keywords: raine syndrome; non lethal; caused novel; middle aged ... See more keywords
MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0576-x
Abstract: To the Editor: A 43-year-old woman was referred to the Autoimmune Diseases Unit in 2012 because of anti-nuclear antibody (ANA) positivity detected on Hep2 cells (1:160, homogenous pattern). There was no family history of autoimmune… read more here.
Keywords: biopsy; syndrome caused; normal range; caused novel ... See more keywords
Recurrent eumycetoma caused by novel species Madurella pseudomycetomatis: A case report
Sign Up to like & getrecommendations! Published in 2019 at "Medical Mycology Case Reports"
DOI: 10.1016/j.mmcr.2019.09.005
Abstract: Mycetoma is a chronic-granulomatous disease characterized by the inflammation, swollen organ, draining sinuses containing blood, pus, and grains. We present a case of madura foot with novel etiologic agent Madurella pseudomycetomatis. Diagnosis was based on… read more here.
Keywords: recurrent eumycetoma; eumycetoma caused; case; caused novel ... See more keywords
Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation
Sign Up to like & getrecommendations! Published in 2019 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2018.11.010
Abstract: Frontotemporal lobar degeneration caused by GRN mutations is mainly associated with a TDP-43 type A proteinopathy. We present a family with autosomal dominant frontotemporal lobar degeneration caused by a novel GRN nonsense mutation (c.5G>A: p.Trp2*)… read more here.
Keywords: tau; novel grn; pathology; caused novel ... See more keywords
A case of familial Flegel's disease caused by a novel splicing variant in SPTLC1.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical and experimental dermatology"
DOI: 10.1093/ced/llad061
Abstract: Flegel’s disease is a rare keratinization disorder characterized by multiple asymptomatic papules predominantly distributed on the distal extremities. Very recently, variants in SPTLC1, which encodes serine palmitoyltransferase, long chain base subunit-1 (SPTLC1), have been demonstrated… read more here.
Keywords: flegel disease; sptlc1; caused novel; case ... See more keywords
Bacteremia and meningitis caused by a novel clone of Neisseria meningitidis serogroup B
Sign Up to like & getrecommendations! Published in 2018 at "Pediatrics International"
DOI: 10.1111/ped.13718
Abstract: 1 Ohtsuka Y, Simizu T, Shoji H et al. Neonatal transient eosinophilic colitis causes lower gastrointestinal bleeding in early infancy. J. Pediatr. Gastroenterol. Nutr. 2007; 44: 501–5. 2 Ohtsuka Y. Food intolerance mucosal inflammation. Pediatr.… read more here.
Keywords: novel clone; clone neisseria; caused novel; meningitis caused ... See more keywords
Cerebral Abscess caused by Novel Species: Streptococcus Pluranimalium.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.29271/jcpsp.2018.09.s181
Abstract: Streptococcus pluranimalium, a gram-positive aerobic coccus, has been isolated primarily from several farm animals. The pathogenicity of this species is not well characterised either in animals or humans. As per the literature, cases of S.… read more here.
Keywords: abscess caused; streptococcus pluranimalium; abscess; cerebral abscess ... See more keywords
Epitheliocystis caused by a novel Chlamydia emerging in Spinibarbus denticulatus in China.
Sign Up to like & getrecommendations! Published in 2022 at "Diseases of aquatic organisms"
DOI: 10.3354/dao03672
Abstract: Epitheliocystis is an emerging and global aquaculture disease caused by a diverse range of bacteria of the order Chlamydiales. Here we report a case of epitheliocystis caused by a novel Chlamydia bacterium, which resulted in… read more here.
Keywords: novel chlamydia; denticulatus; spinibarbus denticulatus; epitheliocystis ... See more keywords
Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.522513
Abstract: Objective: To identify the gene mutation of Stormorken syndrome and review the published Stromal Interaction Molecule 1 (STIM1) mutation phenotype. Methods: We described the clinical and molecular aspects of a Chinese female with Stormorken syndrome… read more here.
Keywords: novel stim1; syndrome caused; stormorken syndrome; caused novel ... See more keywords